GCK
LOCUS ID2645
GENE_SYMBOLGCK
GENE NAMEglucokinase
SYNONYMNSGK, GLK, HK4, HHF3, HKIV, HXKP, LGLK, MODY2, FGQTL3
CHROMOSOME7
HOMOLOGENE ID55440
microRNAsNANA
GENE SUMMARY
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Variant rs730947 in the GCK1 gene appears to play a role in early end stage renal disease (ESRD) onset in African Americans.25027322
Neuropathy1. Patients with GCK had a low prevalence of clinically significant macrovascular complications (4% [95% CI, 1%-10%]) that was not significantly different from controls (11% [95% CI, 5%-19%]; P=.09), and lower in prevalence than patients with YT2D (30% [95% CI, 21%-41%], P<.001). S AND RELEVANCEDespite a median duration of 48.6 years of hyperglycemia, patients with a GCK mutation had low prevalence of microvascular and macrovascular complications. These findings may provide insights into the risks associated with isolated, mild hyperglycemia.24430320